Charcot-Marie-Tooth Disease (CMT)

Overview

Charcot-Marie-Tooth Disease (CMT) is a group of inherited neurological disorders that affect peripheral nerves, causing progressive weakness, muscle loss, and sensory changes, particularly in the feet, legs, hands, and arms. CMT is one of the most common inherited nerve disorders, affecting approximately 1 in 2,500 people in the UK.

At the Royal Buckinghamshire Hospital, our expert team provides specialist assessment, diagnosis, and comprehensive rehabilitation for people living with CMT, supporting patients to maintain mobility, independence, and quality of life.

Causes of Charcot-Marie-Tooth Disease

CMT is caused by inherited genetic mutations affecting peripheral nerves:

• CMT1: Most common, caused by gene mutations affecting nerve myelin
• CMT2: Affects nerve fibres themselves, known as axons
• CMTX: Linked to the X chromosome, often more severe in males

These mutations disrupt normal nerve signals, leading to muscle weakness and sensory loss.

Symptoms of Charcot-Marie-Tooth Disease

Symptoms vary widely but commonly include:

• Progressive weakness in the legs and feet, causing difficulties with walking
• Muscle wasting, particularly in calves and lower legs
• High foot arches (pes cavus) or foot drop
• Loss of balance and coordination
• Numbness or reduced sensation in hands and feet
• Hand weakness and fine motor difficulties in later stages
• Fatigue and muscle cramps

Symptoms typically begin in childhood or early adulthood, progressing slowly over time.

Diagnosis at Royal Buckinghamshire Hospital

Our neurologists provide expert diagnosis through:

• Clinical examination, assessing muscle strength, reflexes, and sensation
• Family history assessment
• Genetic testing, confirming specific gene mutations
• Electromyography (EMG) and nerve conduction studies to evaluate nerve function

Early diagnosis helps manage symptoms and improve long-term outcomes.

Treatment & Rehabilitation

While there is currently no cure for CMT, symptoms can be effectively managed through comprehensive rehabilitation and supportive therapies:

• Physiotherapy, focusing on muscle strength, balance, and gait training
• Occupational therapy, providing strategies for daily living and independence
• Orthotics and splints to support foot alignment and improve walking
• Pain management strategies to manage nerve discomfort
• Assistive devices and mobility aids
• Counselling and psychological support to manage emotional impacts

Our multidisciplinary team provides personalised rehabilitation programmes designed around each individual’s goals.

Why Choose Royal Buckinghamshire Hospital?

• Specialist expertise in neurological rehabilitation
• Individualised care plans addressing mobility, strength, and independence
• Comprehensive diagnostic and treatment facilities
• Private, patient-focused care in a supportive environment
• Access to ongoing therapy and support services

Our Resident Neurologist

Dr Weatherall is very welcoming and highly experienced. He offers his patients sound diagnosis and treatment, along with individual care focused on their future health.

Dr Mark Weatherall

Consultant Neurologist

Field